| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLA, RPL36A-HNRNPH2 (E398K) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | GLA, RPL36A-HNRNPH2 (D313Y) | Single nucleotide variant (missense variant +2 more) | Sudden unexplained death +6 more | GConflicting classifications of pathogenicity; other |
| | GLA, RPL36A-HNRNPH2 (S238N) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (A143T) | Single nucleotide variant (missense variant +2 more) | Fabry disease +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +4 more | |
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